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Article

Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions.

American journal of medical genetics - 1 Sept 1991

Nishimura S, Masuda H, Matsumoto T, Sakura N, Matsumoto T, Ueda K

Abstract excerpt

We report contiguous gene deletions in the distal short arm of the X chromosome in two patients with ichthyosis, due to steroid sulfatase deficiency, and other complex phenotypes. One patient had chondrodysplasia punctata (CDP) and ichthyosis with a normal chromosome constitution. Another patient had a CDP-like phenotype, ichthyosis, and hypogonadism. His karyotype was 46, -X,Y, +der(X)t(X;Y)(p22;q11). DNA from...

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Identifiers

PMID: 1951426
DOI: 10.1002/ajmg.1320400303

Genes

STS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions.PMID 1951426Read ↗

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.Semantic proximity Read ↗

A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defectsSemantic proximity Read ↗

A novel STS mutation and an Xp22.3 microdeletion from one Chinese family with X-linked ichthyosisSemantic proximity Read ↗

X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.Semantic proximity Read ↗

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.Semantic proximity Read ↗

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.Semantic proximity Read ↗

Xp22.3 deletions in isolated familial Kallmann's syndrome.Semantic proximity Read ↗

A multipoint linkage map of the distal short arm of the human X chromosome.Semantic proximity Read ↗

X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies.Semantic proximity Read ↗

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The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature ReviewSemantic proximity Read ↗

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